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Series GSE48873 Query DataSets for GSE48873
Status Public on Feb 20, 2014
Title Blood expression profiles of fragile X premutation carriers identify genes involved in neurodegenerative and infertility phenotypes [FXTAS]
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Fragile X premutation carriers (fXPC) of the CGG expansion in the 5’-UTR of the fragile X mental retardation 1 (FMR1) gene are at high risk of Fragile X Tremor/Ataxia Syndrome (FXTAS), and females might undergo Premature Ovarian Failure (POF1). We have evaluated the peripheral blood gene expression profiles of fXPC and detected a strong deregulation of genes enriched in FXTAS-relevant biological pathways, including inflammation, and neuronal homeostasis and survival. More than 30% of differentially expressed correspond to long non-coding RNAs (lncRNAs). Several deregulated genes (CASP3, DFFA, APP, AKT1, COX6C, COX7B, SOD1, RNF10, HDAC5, ATXN7, ATXN3 and EAP1) were validated in brain samples of a mouse model of FXTAS and in neuronal cells expressing the expanded FMR1 5’-UTR. One of the validated genes is the early at menopause 1 (EAP1) gene. We confirmed the EAP1 deregulation both in male and female fXPC. Down-regulation was stronger in female fXPC with POF1 compared with female fXPC without POF1. Increased levels of FMR1 mRNA were detected in all brain areas of the CGG-KI mouse model. EAP1 was significantly downregulated in the brainstem and cerebellum of the KI mouse, suggesting that EAP1 levels in certain brain areas could contribute to POF in this model. All together, these results suggest that gene expression profiling in blood of fXPC reflects changes in the brain transcriptome that may underlie neuropathological aspects in FXTAS and of POF.
Overall design In the study presented here, we have 5 control samples plus one biological replicate and 9 patients with CGG expansions in the 5'UTR of the FMR1 gene (being premutation carriers)
Contributor(s) Mateu-Huertas E, Rodriguez-Revenga L, Alvarez-Mora MI, Willemsen R, Milá M, Martí E, Estivill X
Citation(s) 24418349
Submission date Jul 15, 2013
Last update date Nov 27, 2018
Contact name Elisabet Mateu Huertas
Organization name Center for Genomic Regulation
Department Bioinformatics and Genomics
Lab Xavier Estivill
Street address Dr. Aiguader, 88
City Barcelona
State/province Barcelona
ZIP/Postal code 08003
Country Spain
Platforms (1)
GPL13607 Agilent-028004 SurePrint G3 Human GE 8x60K Microarray (Feature Number version)
Samples (15)
GSM1186211 Control 4
GSM1186212 Control 1
GSM1186213 Control 5
This SubSeries is part of SuperSeries:
GSE48903 Blood expression profiles of fragile X premutation carriers identify genes involved in neurodegenerative and infertility phenotypes
BioProject PRJNA212067

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE48873_RAW.tar 187.6 Mb (http)(custom) TAR (of TXT)
Processed data included within Sample table

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